Shank2 mutant mice display a hypersecretory response to cholera toxin

J Physiol. 2014 Apr 15;592(8):1809-21. doi: 10.1113/jphysiol.2013.268631. Epub 2014 Jan 20.

Abstract

Shank2 is a PDZ (PSD-95/discs large/ZO-1)-based adaptor that has been suggested to regulate membrane transporting proteins in the brain and epithelial tissues. Here, we report that Shank2 mutant (Shank2(-/-)) mice exhibit aberrant fluid and ion transport in the intestine. Molecular characterization using epithelial tissues from Shank2(+/+) and Shank2(-/-) mice revealed that a long spliceoform of Shank2 (Shank2E) is predominantly expressed in the pancreatic, renal and intestinal epithelia. In functional assays, deletion of Shank2 increased the cystic fibrosis transmembrane conductance regulator (CFTR)-dependent short-circuit currents by 84% (P < 0.05) and 101% (P < 0.05) in the mouse colon and rectum, respectively. Disruption of the CFTR-Shank2-phosphodiesterase 4D protein complex appeared to be mostly responsible for the changes in CFTR activities. Notably, Shank2 deletion profoundly increased cholera toxin-induced fluid accumulation in the mouse intestine (∼90%, P < 0.01). Analyses with chemical inhibitors confirmed that the hyperactivation of CFTR channel function is responsible for the increased response to cholera toxin. These results suggest that Shank2 is a key molecule that participates in epithelial homeostasis, in particular to prevent overt secretory responses caused by epithelial pathogens.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chlorides / metabolism
  • Cholera Toxin / pharmacology*
  • Colon / cytology
  • Colon / metabolism
  • Cyclic Nucleotide Phosphodiesterases, Type 4 / metabolism
  • Cystic Fibrosis Transmembrane Conductance Regulator / antagonists & inhibitors
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • HEK293 Cells
  • Homeostasis
  • Humans
  • Intestinal Mucosa / drug effects
  • Intestinal Mucosa / metabolism*
  • Ion Transport
  • Mice
  • Mutation*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Protein Binding
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Rectum / cytology
  • Rectum / metabolism

Substances

  • Chlorides
  • Nerve Tissue Proteins
  • Protein Isoforms
  • Shank2 protein, mouse
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cholera Toxin
  • Cyclic Nucleotide Phosphodiesterases, Type 4